Sara made a dramatic entrance in to the world on January 31, 2007. She was born by emergency c-section at 37 weeks gestation after a very difficult pregnancy (9 weeks of it spent on complete bed rest). During my pregnancy there was never any sign that anything was wrong with my baby. All the testing done came back normal.
At birth, Sara had a slightly swollen right foot. The nurses at the hospital told me that Sara had been sitting very high in my belly, and that her foot might have been at a strange angle under my bottom rib, which would cause it to retain fluid. Being a new mother, it made logical sense so I believed them. They told me it would go away in a couple of days.
At 5 days old, I took Sara to the doctor for her first appointment after leaving the hospital. Her foot was the same size, nothing had changed. I explained my concern to her pediatrician and he reassured me that it might take a little more time. He told me to call and check in a few days later. It never went away!
At Sara's 2 week appointment I was beside myself...her foot was bigger! I was in panic mode at that point. I had felt from the moment of her birth something was wrong, and everyone (even my mom) had told me it was just nerves from being a new mom. It would turn out that it was really my mother's intuition that I knew from the moment of her birth that something about her was different. But seeing my concern and coming to the same conclusion that something wasn't right, the doctor referred us to The Children's Hospital (TCH) in Denver. We were sent to an orthopedist.
Three weeks later we took x-rays and the orthopedist told us that her bone structure was fine and there was nothing she could help us with. So with that disappointing news we went back to the pediatrician to start again. Another two weeks, and the pediatrician sees us again and recommends that we see a geneticist because this was obviously not an orthopedic issue. When I called TCH to make the appointment, they told me I had to wait 5 mos. I made the appointment, but was really disappointed about waiting so long.
Two months later we were back in the pediatricians office because the swelling had begun to spread. It was up to her right thigh now, and I was a wreck. I begged him to call TCH and try to urge them to give us a sooner appointment. A month later we sat in an exam room when Sara's geneticist walked in. He looked her over and mentioned 4 or 5 things he thought it might be off the top of his head. In that same visit he also mentioned possible amputation of her leg at some point. I walked out of that appointment in complete shock at what had happened. We didn't even know what was wrong with her, and suddenly I wasn't only facing a mystery disease but the possible loss of my daughter's leg too. It was one of the lowest points of this entire journey so far!
We did multiple blood tests over the next few months, full body x-rays, and other tests. But the test that made the difference was an ultrasound of her renal system. During this visit the technician told us she found a large mass in Sara's abdomen, close to her bladder and kidneys. She didn't know what it was, but it wasn't what she'd been looking for. She'd actually been looking for a tumor on Sara's liver, which thankfully hadn't been there.
After all the testing we went back to the geneticist and he said that with the new development from the ultrasound he wanted to do an MRI, and test Sara for something called Neurofibromatosis. So another round of testing, and a month of waiting for blood test results.
I'll never forget that call. It was a mix of relief and also the scariest moment of my life. My baby finally had a diagnosis! Sara had NF, type 1. She also had a right leg consumed with tumors, and that mass in her abdomen was a tumor as well, and they were all pNFs. The good news was her brain and eyes were clear, and he hadn't seen any sign of any other pNFs, especially near her lungs and heart. Her tumors were inoperable, and that meant just waiting to see what happened now. Sara was 14 mos old, and it was late March of 2008. Between then and April of 2008, we gathered many new doctors to add to the team of specialist we already had to help treat Sara's very difficult NF. Some of those doctors had never seen a case like her's, so advanced in such a young child. I know that they didn't always have the answers I needed because it was new to them too! But still I took comfort in the fact that at least we knew what it was, and that was a step in the right direction.
In April 2008 Sara entered the hospital for the first time for a horrible kidney infection. It was one of many that would plague her for over the next year. Between April 2008 and May of 2009 Sara was hospitalized 14 times for various degrees of infection. Some trips were 3 days, and some trips were 3 weeks. It was agonizing to watch my daughter struggle to be healthy and know there was nothing I could do. Her urologist tried many things to try and stop the infections, but nothing worked. Finally in May 2009, he explained that he had one more trick up his sleeve, but it was major and life changing. He wanted to do a urostomy.
He was going to take the tubes that attach the kidneys to her bladder and put them together and bring them to her skin and create a stoma. Sara would forever have a hole in her skin for urine to drain out of and wear a bag with special adhesive stuck to her skin. It was devastating to think about, but I knew deep down it had to be done. So the Tuesday after Memorial Day 2009 I took my daughter to the hospital (She'd only been discharged from her most recent infection the Friday before.) to do what at the time I thought was unthinkable. The next day, Wednesday, they wheeled her into surgery. Many of our closest family and friends were present for support. We took up about half of the waiting room. The entire 4 hours she was in surgery all I could do was pray. Please God, let this work!!
Sara spent 5 days in the hospital. During that time I had to learn how to care for Sara's new stoma. It was just to the left of her belly button and looked like a little red flower. As soon as I saw it, my fear of the unknown faded. I knew I had made the right choice for her...even if it meant she'd never wear a bikini. I learned how to change the bag, which has to be done every other day, and how to drain it when it was full. It took a couple months of doing it to get a good system in place, but now it doesn't even phase me. Its just part of our daily lives.
For the following year Sara did amazing! She finally started to grow bigger because she was healthy long enough to have the energy to do so. Her tumor growth slowed considerably, and started growing at the same rate as her. She did develop a small tumor in her left heal, but over all that was a minor issue considering everything else going on. Her kidneys got healthier and stronger, and although they will never work at 100% because of all the damage they suffered in that year, they are doing the best they ever have now.
Just 5 days shy of the one year anniversary of her amazing surgery, Sara succumb to another infection. We spent 4 days in the hospital, and then she was sent home with a clean bill of health. Since then she's done wonderful! The tumor in her abdomen has stopped growing according to her MRI scan in January 2011. She takes medication to control nerve pain in her right leg, and Sara uses a wheelchair to get around. She can crawl and take a few steps with her walker (all things the doctors said she would never do). Sara continues to get stronger all the time, and I have no doubts that she isn't about to let anything hold her back...especially her NF.